Author: Lynch Syndrome Ireland

The Prospective Lynch Syndromes Database (PLSD)

cumulative risks for cancer in organs at increased risks by age, genetic variant, and sex in carriers subjected to colonoscopy.

Version 5 corresponding with PMID: 37181409 and PMID: 37821984.

Aims of PLSD

Based on the observation that removal of adenomas with colonoscopy did not reduce CRC incidence as assumed, in 2012 the European Hereditary Tumor Group (EHTG), at that time denoted the Mallorca Group, decided to compile information on follow-up of path_MMR carriers across multiple specialist centres to answer three questions:

  • To what degree does colonoscopy surveillance reduce CRC incidence in path_MMR carriers?
  • What is the penetrance and expressivity of pathogenic variants in each of the four Lynch syndrome-associated genes?
  • What is the survival of carriers when followed-up as recommended, to facilitate early diagnosis and treatment?

http://www.plsd.eu

Modifiable risk factors for cancer among people with lynch syndrome: an international, cross-sectional survey

Lynch syndrome is the most common cause of hereditary colorectal and endometrial cancer. Lifestyle modification may provide an opportunity for adjunctive cancer prevention. In this study, they aimed to characterise modifiable risk factors in people with Lynch syndrome and compare this with international guidelines for cancer prevention.

Conclusions

They have characterised the modifiable risk profile of people living with Lynch syndrome, outlining targets for intervention based on lifestyle guidelines for the general population. As evidence supporting the relevance of modifiable factors in Lynch syndrome emerges, behavioural modification may prove an impactful means of cancer prevention.

https://hccpjournal.biomedcentral.com/articles/10.1186/s13053-024-00280-w

What is Lynch syndrome?

Lynch syndrome (LS) is a genetic condition that is passed on between families (inherited). A syndrome is a group of signs and symptoms that occur together and point to a particular condition. 

Most people who have Lynch syndrome are well and don’t know they have LS.

However, someone with LS is more at risk of developing certain types of cancer than other people of a similar age.

https://www.cancer.ie/cancer-information-and-support/cancer-types/bowel-colorectal-cancer/lynch-syndrome

Men’s Health

Check out our Men’s Health hub, full of helpful tips for healthy living and how to #SpotCancerEarly at: https://brnw.ch/21wKBEG

Also…

Many men with cancer in the family worry that they are at greater risk of getting it themselves. But this isn’t the case for most people. Cancer is a common disease among older people, so most families will include at least one person who has had cancer.

 5 – 10% of cancers are linked to an inherited gene fault.

The strength of your family history depends on:

  • Who in your family has had cancer.
  • How old they were at diagnosis.

The more relatives who have had cancer, and the younger they were at diagnosis, the stronger your family history. You may have a strong family history if any of these situations apply to you:

  • More than two close relatives on the same side of your family have had cancer.
  • The cancers developed when they were young (under the age of 50).
  • One of your relatives has had a gene fault found by genetic tests.

What should I do if I have a family history of cancer?

Talk to your doctor who can help you find out if your family history of cancer is of concern. Your doctor may suggest that you visit regularly for screening. In this way, you can pick up problems early.  

Your family history of cancer can change over time, so it is important to keep your doctor updated about any new cancers diagnosed in your family.

Lynch Choices

  • Lynch syndrome (‘Lynch’) is an inherited condition that increases the chance of developing certain cancers. The type of cancer depends on the genes involved.
  • This website helps people with Lynch to make choices that are right for them. It is designed to be used with support from the genetics service, GPs, healthcare teams in the community, charities and patient groups.
  • If you are concerned about Lynch but have not been diagnosed, please speak to your GP or genetics service.
  • Each session below helps you think about your choices at home, so you are ready to talk through your choices with a GP, genetics or other specialist.

https://canchoose.org.uk

Leveraging Electronic Health Record Data to Understand Gaps Underlying the Underdiagnosis of Lynch Syndrome

Family history may not make its way into the EHR at all. Barriers to obtaining a detailed and accurate family history have been well described, and improvements will require system-level strategies such as the genetic education of nongenetics providers, point-of-care risk assessments, interactive patient-facing software, and other solutions.

The EHR can play an important role in identifying candidates for LS screening and advancing the clinical care of patients with LS.

However, many limitations of the EHR need to be addressed and complementary approaches that incorporate input from all stakeholders are key to improving the lives of individuals with LS.

https://ascopubs.org/doi/full/10.1200/CCI.24.00032

New bowel cancer screening launches for Lynch syndrome patients in England

A new NHS testing programme for bowel cancer has been launched for people with Lynch Syndrome, following an initiative to increase genomic testing for the condition.

 Around 10,000 people with Lynch syndrome will start receiving invitations to take part this year.

Dr Kevin Monahan, who led the NHS England Lynch syndrome transformation project, said: “Incorporating people with Lynch syndrome into the national colonoscopy screening programme is game-changing and will save many lives each year.

It will deliver prevention and early diagnosis of bowel cancer through timely and high-quality colonoscopy. Now diagnosis of this hereditary condition in England will be linked to lifelong patient-focused care.

What I Wish I Was Told About Lynch Syndrome

“The most challenging part of dealing with Lynch syndrome for me is the uncertainty surrounding my son’s health. The fear of him possibly inheriting the mutation gives me anxiety, especially since he hasn’t been tested yet. If it were solely about me, I might have approached things differently — I may have postponed my prophylactic surgeries until after achieving menopause.”

“I didn’t have to face Lynch syndrome alone after realizing that support is always available. That support system, as well as staying ahead on check-ups and focusing on my wellbeing, guided my path after being diagnosed.”

The landscape of Lynch syndrome has significantly evolved over the past decade, with advancements in genetic testing, universal screening and predictive models improving early detection.

https://www.curetoday.com/view/what-i-wish-i-was-told-about-lynch-syndrome

Molecular profiling of pediatric and young adult colorectal cancer reveals a distinct genomic landscapes and potential therapeutic avenues

https://pubmed.ncbi.nlm.nih.gov/38849509/

This study delves into the genomic landscape of EO-CRC, specifically focusing on pediatric (PED) and young adult (YA) patients, comparing them with adult (AD) CRC. 

This study emphasizes the importance of comprehensive molecular investigations in EO-CRCs, which can potentially improve diagnostic accuracy, prognosis, and therapeutic decisions for these patients. Collaboration between the pediatric and adult oncology community is fundamental to improve oncological outcomes for this rare and challenging pediatric tumor.

Study: Colorectal Cancer Rates Are Rising Rapidly Among Children and Teens

This rise in colorectal cancer cases among young people has been well-documented in recent years. However, experts are still working to figure out what’s behind the trend.

The myth that someone can be too young to get cancer is just not true.

  • Colorectal cancer rates are rising significantly among people as young as 10, a new study has found
  • The report sheds more light on the fact that colorectal cancer is increasingly affecting people under the 45 years old—the age at which screenings are recommended to begin(USA).
  • Health officials should invest in more research on colorectal cancer in young people to reverse current trends, experts said.

https://www.health.com/study-colorectal-cancer-rates-children-teens-8648696